Narcolepsy in early childhood – a case study with video

Introduction: Narcolepsy is a lifelong disease characterized by excessive daytime sleepiness, cataplexy and abnormal REM sleep stages. It often develops atypically in children, the cataplexy developing later or with a mainly facial muscular weakness.

Casestudy: We report on a 5 year old boy with normal psychomotoric development to date, who presented with a change in character over the last 5 months. He began showing aggressive behavior, problems sleeping through the night, increased need for sleep, markedly enhanced appetite, weight gain and bilaterial ptosis. Typical sleep-onset REM was repeatedly observed in the sleep laboratory. In addition, hypocretin concentration in the cerebrospinal fluid was low. The boy was shown to possess the HLA antigene associated with the disease. An immunoglobulin therapy produced no substantial changes. Since taking Methylphenidate there has been a continuous improvement and the patient is practically free of symptoms at the present.

Summary: While the onset of narcolepsy usually occurs during adolescence and early adulthood, this disease can also begin in early childhood. Early diagnosis and a corresponding therapy are of paramount importance for the quality of the affected children's lives. The pathogenesis has not yet been fully clarified, a connection with hypocretin, a hypothalamic neuropeptide which influences regulation of the sleeping/waking rhythm is being discussed. We would like to present a case study of this rare disease in children using video examples.